Canonical Allele Identifier: CA493393233
Gene: CREBBP HGNC NCBI

Linked Data

gnomAD v4: 16-3727844-C-T
MyVariant Identifiers: chr16:g.3777845C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727844C>T , CM000678.2:g.3727844C>T GRCh38
NC_000016.9:g.3777845C>T , CM000678.1:g.3777845C>T GRCh37
NC_000016.8:g.3717846C>T NCBI36
NG_009873.1:g.157277G>A
NG_009873.2:g.157870G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7203G>A MANE Select ENSP00000262367.5:p.Gly2401=
ENST00000262367.9:c.7203G>A ENSP00000262367.5:p.Gly2401=
ENST00000382070.7:c.7089G>A ENSP00000371502.3:p.Gly2363=
NM_001079846.1:c.7089G>A NP_001073315.1:p.Gly2363=
NM_004380.2:c.7203G>A NP_004371.2:p.Gly2401=
XM_005255124.3:c.7158G>A XP_005255181.1:p.Gly2386=
XM_005255125.3:c.6786G>A XP_005255182.1:p.Gly2262=
XM_006720848.2:c.6942G>A XP_006720911.1:p.Gly2314=
XM_011522380.1:c.7149G>A XP_011520682.1:p.Gly2383=
XM_011522381.1:c.6450G>A XP_011520683.1:p.Gly2150=
XM_005255124.4:c.7158G>A XP_005255181.1:p.Gly2386=
XM_005255125.4:c.6786G>A XP_005255182.1:p.Gly2262=
XM_006720848.3:c.6942G>A XP_006720911.1:p.Gly2314=
XM_011522381.2:c.6450G>A XP_011520683.1:p.Gly2150=
XM_017022944.1:c.7197G>A XP_016878433.1:p.Gly2399=
NM_004380.3:c.7203G>A MANE Select NP_004371.2:p.Gly2401=